Schnitzler综合征一例

A case of Schnitzler＇s syndrome

【摘要c反应蛋白75mg／L；血清总IgE（1596kU／L）、IgG（20．4g／L）、IgM（6310mg／L）升高，血清免疫固定电泳：IgM为K型单克隆免疫球蛋白。骨髓检查：骨髓增生活跃。NLRP3基因的10对外显子测序分析发现，c．663：C〉T：p．T221、c．732：G〉A：p．A244A和c．786：A〉G：p．R262R位点突变，但无相应氨基酸改变。诊断：Schnitzler综合征。治疗：口服多种抗组胺药物并增加剂量均不能改善症状，改用环孢素200mg，d连续治疗18d后仍无显效，改口服泼尼松30mg／d加雷公藤66μg每日3次，治疗2周后皮疹消退，关节疼痛缓解，血白细胞下降至9．01×10^9L，红细胞沉降率下降至50mm／1h、血红蛋白升高至109．7g／L，c反应蛋白下降至6mg/L。随访1年，糖皮质激素逐渐减量至8mg/d，目前病情稳定，无皮疹和发热，但仍间断出现髋关节及膝关节疼痛。

A 59-year-old male patient presented with recurrent erythema and wheals all over the body for 6 years, complicated by irregular fever （the highest body temperature 〈 39 ~C ）and arthralgia for 2 months. He experienced a weight loss of 5 kg during two years prior to the presentation. Physical examination showed anemic comlexion, and there was no palpable enlargement of superficial lymph nodes, liver and spleen. Generalized erythema and wheals occurred all over the body, involving about 50% of the body surface area. Histopathological examination of skin lesions showed infiltration of multiple neutrophilic granulocytes around blood vessels in the superficial dermis, and no vasculopathy was observed. Laboratory examinations revealed increased white blood cell （WBC） counts （13.97 ×10^/L）, erythroeyte sedimentation rate （ESR, 136 mm/1 h） and C-reactive protein （CRP） level （ 75 mg/L）, decreased hemoglobin level （96 g/L）, and high serum levels of IgE （1 596 kU/L）, IgG （20.4 g/L）and IgM （6 310 mg/L）. Serum immunoelectrophoresis demonstrated that the IgM was a K-type monoclonal immunoglobulin. Bone marrow examination showed active bone marrow hyperplasia. DNA sequencing analysis of 10 pairs of exons of the NLRP3 gene revealed 3 synonymous mutations, including c.663：C 〉 T：p.T221, c.732：G 〉 A：p.A244A and e.786：A 〉 G：p.R262R. Finally, the patient was diagnosed with Schnitzler＇ s syndrome. There was no improvement of symptoms after the treatment with muhiple oral antihistamines at increased dose levels. Then, the treatment protocol was adjusted to oral ciclosporin at a dosage of 200 mg/d for consecutive 18 days, but the patient still showed no response. After the treatment with oral prednisone （30 mg/d） and Tripterygium wilfordii tablets （66 μg thrice a day） for 2 weeks, the skin rashes subsided gradually, and arthralgia was relieved. Moreover, the WBC count, ESR and CRP level were decreased to 9.01×10^9/L, 50 mm/l h and 6 mg/L respectively, while the hemoglobin level was increased to 109.7 g/L. After l-year follow- up, the dosage of glucocortieoids was gradually decreased to 8 mg/d. In addition, his condition was controlled well with no skin lesions and fever, except for occasional arthralgia in the knees and hip.